Spectrum of a-thalassemia mutations including first observation of - -FIL deletion in Hatay Province, Turkey
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Dosyalar
Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Academic Press Inc Elsevier Science
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Alpha thalassemia (alpha-thal) is one of the most common genetic disorders in the world. It is characterized by the absence or reduced expression of alpha-globin genes. The frequency of alpha-thal mutations in the province of Hatay in South Turkey is unknown. Therefore, in the present study, we aimed to investigate the spectrum of alpha-thal mutations in this province. Three hundred and nine patients were tested for alpha-thal mutations by using reverse dot blot hybridization technique and nine different mutations were detected in 97 of them. Among the 9 different mutations found, the most frequent mutations were the -alpha(3.7) (43.81%), -alpha 2(-5nt) (6.70%), - -(MED) (5.67%) and alpha 2(Poly) (A2) (2.57%). In the present study, - -(FIL) mutation was detected in a patient for the first time in Turkey. Our results indicated that alpha-thal mutations are highly heterogeneous and -alpha(3.7) is the most prevalent mutation in Hatay province of South Turkey. In addition, - -(FIL) mutation was detected in a patient for the first time in Turkey. This new finding may contribute to the establishment of a national mutation database and genetic counseling. (C) 2013 Elsevier Inc. All rights reserved.
Açıklama
Anahtar Kelimeler
alpha-Thalassemia, Mutations, Frequency, --(FIL) deletion, Turkey
Kaynak
Blood Cells Molecules and Diseases
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
51
Sayı
1
